Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan

PloS One
Maleeha MariaFrans P M Cremers

Abstract

Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD). We genetically screened 13 families from a cohort of 81 Pakistani IRD families diagnosed with Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), congenital stationary night blindness (CSNB), or cone dystrophy (CD). We employed genome-wide single nucleotide polymorphism (SNP) array analysis to identify homozygous regions shared by affected individuals and performed Sanger sequencing of IRD-associated genes located in the sizeable homozygous regions. In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS) of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families. Homozygosity mapping and Sanger sequencing of IRD-associated genes revealed the underlying mutations in 10 families. TSS revealed causative variants in t...Continue Reading

References

Jul 1, 1982·The British Journal of Ophthalmology·M Jay
Oct 24, 1995·Proceedings of the National Academy of Sciences of the United States of America·T P DryjaK W Yau
Apr 1, 1997·Human Molecular Genetics·R E KelsellD M Hunt
Apr 18, 1998·Proceedings of the National Academy of Sciences of the United States of America·G M AclandG D Aguirre
Oct 3, 1999·Nature Genetics·A I den HollanderA A Bergen
Aug 10, 2000·Nature Genetics·R VervoortA F Wright
Apr 28, 2001·Nature Genetics·G M AclandJ Bennett
Sep 8, 2001·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·K F DamjiR K Koenekoop
Sep 13, 2001·Clinical Genetics·A Bittles
May 17, 2002·Human Molecular Genetics·Carlo RivoltaThaddeus P Dryja
Feb 8, 2003·Experimental Eye Research·Shagufta KhaliqS Qasim Mehdi
Feb 6, 2004·Journal of Medical Genetics·S JohnsonD M Hunt
Jul 28, 2005·Clinical and Experimental Dermatology·H HamamyK Ajlouni
Oct 18, 2005·Molecular Therapy : the Journal of the American Society of Gene Therapy·Gregory M AclandSamuel G Jacobson
Aug 16, 2006·American Journal of Human Genetics·Anneke I den HollanderFrans P M Cremers
Oct 13, 2006·Orphanet Journal of Rare Diseases·Christian Hamel
Nov 23, 2006·Lancet·Dyonne T HartongThaddeus P Dryja
Jun 5, 2007·Nature Genetics·Anneke I den HollanderRonald Roepman
Aug 29, 2007·Investigative Ophthalmology & Visual Science·Francesca SimonelliSandro Banfi
Oct 24, 2007·Violence Against Women·Christopher G EllisonByron R Johnson
Jan 23, 2008·Molecular Therapy : the Journal of the American Society of Gene Therapy·Jeannette BennicelliJean Bennett
Apr 29, 2008·The New England Journal of Medicine·Albert M MaguireJean Bennett
Dec 17, 2008·Investigative Ophthalmology & Visual Science·Anneke I den HollanderEliot L Berson
Aug 20, 2009·Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases·F WalletR J Courcol
Jan 13, 2010·Archives of Ophthalmology·Martin McKibbinChris F Inglehearn
Mar 20, 2010·Investigative Ophthalmology & Visual Science·Mai M Abd El-AzizShomi S Bhattacharya
Jun 12, 2010·The British Journal of Ophthalmology·Amber ShahzadiSheikh Riazuddin
Aug 3, 2010·American Journal of Human Genetics·Dikla Bandah-RozenfeldAnneke I den Hollander
Feb 12, 2011·Ophthalmology·Muhammad Imran KhanAnneke I den Hollander
Mar 31, 2011·The British Journal of Ophthalmology·Shagufta NazSheikh Riazuddin
Oct 12, 2011·Archives of Ophthalmology·Maleeha AzamAnneke I den Hollander
Dec 21, 2011·Advances in Experimental Medicine and Biology·Karin W LittinkRob W J Collin

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Citations

Dec 5, 2017·The Journal of Clinical Investigation·Simon M Petersen-JonesStephen H Tsang
Nov 14, 2017·Pediatric Annals·Joan M Stoler
Nov 20, 2018·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Qin XiangHao Deng
Apr 24, 2016·Human Molecular Genetics·Pooja BiswasRadha Ayyagari
May 26, 2018·JAMA Ophthalmology·Peter Charbel IssaThomas Hummel
May 19, 2019·European Journal of Human Genetics : EJHG·Moeen RiazPaul Lacaze
Apr 14, 2021·Human Mutation·Marco NassisiIsabelle Audo
Oct 16, 2020·Genetic Testing and Molecular Biomarkers·Wanli TianXianjun Zhu

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Methods Mentioned

BETA
genotyping
antisense oligonucleotides

Software Mentioned

Homozygosity Mapper

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